Department of Biochemistry, University of Toronto, Toronto, ON, Canada.
Autophagy. 2011 Jul;7(7):790-2. doi: 10.4161/auto.7.7.15614. Epub 2011 Jul 1.
Mitochondrial biology has recently emerged as a key regulatory event in Parkinson disease (PD). Notably, defects in the clearance of damaged mitochondria, termed mitophagy, have been recently highlighted as a possible mechanistic explanation for neuronal loss. We have recently identified the mitochondrial rhomboid, termed PARL, as a regulator of the cells mitophagic response. Further, we have identified PD-linked mutations at a functional site in the PARL gene. Here we discuss the benefit of combining molecular genetic and cell biology approaches in understanding human disease.
线粒体生物学最近成为帕金森病 (PD) 的一个关键调节事件。值得注意的是，最近有研究表明，受损线粒体的清除缺陷，即自噬，可能是神经元丧失的一种机制解释。我们最近发现了一种被称为 PARL 的线粒体菱形结构，它是细胞自噬反应的调节因子。此外，我们还在 PARL 基因的一个功能位点发现了与 PD 相关的突变。在这里，我们讨论了将分子遗传学和细胞生物学方法相结合来理解人类疾病的益处。
